Penetrance and variability in anterior chamber malformations

H. E. Cross

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations


In 1966, Reese and Ellsworth published a paper entitled 'The Anterior Chamber Cleavage Syndrome', calling attention to congenital malformations of the eye that histologically appear to have a common pathogenesis. Their choice of title was perhaps unfortunate since it has not been established that faulty cleavage is responsible for the histologic or clinical abnormalities. Furthermore, the reported abnormalities do not comprise a single syndrome since a variety of disorders, with manifestations not necessarily limited to the eye, are associated with these malformations. To further confuse the classification of anterior chamber abnormalities, a variety of terms have been introduced, including posterior embryotoxon, Axenfeld anomaly, Axenfeld syndrome, the Rieger syndrome, Rieger anomaly, Peters anomaly, Peters syndrome, mesoectodermal dysgenesis, and dysgenesis mesodermalis corneae et irides, etc. While it is true that in many cases no diagnostic picture is present, it is unjustified to indiscriminately lump all variations and to consider them as constituting an overlapping continuum. At least part of the current nosologic confusion also arises from an excessively narrow specialty focus. More attention to the study of the entire patient may help delineate the disorders involved. In this presentation, we discuss briefly the characteristics of currently recognized disorders with congenital anterior chamber malformations and describe in more detail the variability of clinical expression found in the Rieger syndrome. The ocular and systemic diseases in which dysgenesis of the anterior chamber has been described are listed.

Original languageEnglish (US)
Pages (from-to)131-144
Number of pages14
JournalBirth Defects: Original Article Series
Issue number5 B
StatePublished - 1979

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics(clinical)


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